Scientific correspondence
Hyperhomocyst(e)inaemia, but not MTHFR C677T mutation, as a risk
factor for non-arteritic ischaemic optic neuropathy
Martin Wegera, Olaf Stangerb, Hannes Deutschmanna, Michael Simona, Wilfried Rennerc, Otto Schmuta, Jürgen Semmelrockd, Anton Haasa
a Department of
Ophthalmology, Karl-Franzens University, Graz, Austria, b Department of Cardiac Surgery, c Department of Angiology, d Department
of Laboratory Medicine
Correspondence to: Martin Weger, MD, Department of Ophthalmology, Auenbruggerplatz 4, 8036 Graz, Austria martin.weger{at}kfunigraz.ac.at
Accepted for publication 1 March 2001
BACKGROUND/AIMS
Hyperhomocyst(e)inaemia
has been identified as a strong risk factor for stroke, myocardial
infarction, and deep vein thrombosis. A point mutation of methylene
tetrahydrofolate reductase (MTHFR C677T) has been associated with
increased plasma homocyst(e)ine levels. To investigate whether
hyperhomocyst(e)inaemia and/or MTHFR C677T mutation are associated with
non-arteritic ischaemic optic neuropathy (NAION), a case-control study
including 59 consecutive patients with NAION and 59 controls matched
for age and sex was performed.
METHODSFasting plasma
homocyst(e)ine levels, MTHFR C677T genotypes, and plasma levels of
folate and vitamin B-12 were determined.
RESULTSMean plasma
homocyst(e)ine levels were significantly higher in patients than in
controls (11.8 (SD 5.7) µmol/l v 9.8 (2.5) µmol/l, p = 0.02). The odds ratio for patients with homocyst(e)ine levels exceeding the 95th percentile of control homocyst(e)ine levels
was 5.8 (95% CI 1.5-21.4). Mean plasma folate levels were significantly lower in patients than in controls (4.3 (1.7) ng/ml v 5.5 (1.9) ng/ml, p = 0.001), whereas
plasma vitamin B-12 levels did not differ significantly. Prevalence of
the MTHFR C677T mutation was not significantly increased in patients
with NAION compared with controls.
CONCLUSIONThese
results suggest that hyperhomocyst(e)inaemia, but not MTHFR C677T
mutation is associated with NAION. Determination of plasma
homocyst(e)ine levels might be of diagnostic value in patients with NAION.
© 2001 by British Journal of Ophthalmology
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